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Only 10 patients affected with HS have been previously described in literature, of which seven were molecularly confirmed. We report a 20\u2010year\u2010old and a 13\u2010month\u2010old patient with HS diagnosed by exome sequencing bringing the total number of clinically diagnosed cases to 12 and <jats:italic>MED12<\/jats:italic> associated to 9. We describe previously unreported molecular and clinical findings associated with HS and review all reported cases to permit prompt diagnosis, appropriate management, and genetic counseling of HS patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.62756","type":"journal-article","created":{"date-parts":[[2022,4,6]],"date-time":"2022-04-06T10:24:33Z","timestamp":1649240673000},"page":"2231-2236","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<scp><i>MED12<\/i>\u2010related<\/scp> Hardikar syndrome: Two additional cases and novel phenotypic features"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2943-2136","authenticated-orcid":false,"given":"Nishitha R.","family":"Pillai","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota  Minneapolis Minnesota 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